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Items: 1 to 100 of 1129

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065884, LOC130065885
+2522 more
Copy number gain
See cases
GPathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
EDN3, EEF1A2
+635 more
Copy number gain
20q13.13qter duplication
GPathogenic
LOC130066240, LOC130066241
+553 more
Copy number gain
See cases
GLikely pathogenic
ABHD16B, ADRM1
+491 more
Copy number gain
See cases
GPathogenic
LOC130066376, LOC130066377
+464 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADRM1
+355 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADRM1
+312 more
Copy number gain
See cases
GPathogenic
ADRM1, ARFGAP1
+198 more
Duplication
not specified
GUncertain significance
ARFGAP1, ARFRP1
+183 more
Copy number loss
See cases
GPathogenic
ABHD16B, ARFGAP1
+249 more
Copy number loss
See cases
GPathogenic
OGFR-AS1, OPRL1
+248 more
Copy number loss
See cases
GPathogenic
ABHD16B, ARFGAP1
+244 more
Copy number loss
See cases
GPathogenic
ARFGAP1, ARFRP1
+165 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ABHD16B, ARFGAP1
+230 more
Copy number loss
See cases
GPathogenic
LOC130066361, LOC130066362
+102 more
Duplication
not provided
GUncertain significance
ARFGAP1, BIRC7
+37 more
Copy number loss
See cases
GPathogenic
RGS19, RTEL1
+181 more
Copy number loss
See cases
GPathogenic
ABHD16B, ARFGAP1
+177 more
Copy number gain
See cases
GPathogenic
ABHD16B, ARFGAP1
+177 more
Copy number loss
See cases
GLikely pathogenic
ARFGAP1, BIRC7
+15 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ARFGAP1, CHRNA4
+19 more
Deletion
Seizure
GLikely pathogenic
CHRNA4
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+2 more
GBenign
CHRNA4
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
CHRNA4
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CHRNA4
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
CHRNA4
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
CHRNA4
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
CHRNA4
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
CHRNA4
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
CHRNA4
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
CHRNA4
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CHRNA4
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4
(W446R +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4
(P621T +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+2 more
GConflicting classifications of pathogenicity
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4
(P444R +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4
(P620L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CHRNA4
(P620S +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4
(F618L +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GUncertain significance
CHRNA4
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4
(G616V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GConflicting classifications of pathogenicity
CHRNA4
(T438M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CHRNA4
(V433F +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4
(V609I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GLikely benign
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GLikely benign
CHRNA4
(M429I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
CHRNA4
(M429K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4
(I425V +1 more)
Single nucleotide variant
(missense variant +1 more)
CHRNA4-related condition
GUncertain significance
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4
(R424H +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4
(I598V +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
+2 more
GUncertain significance
CHRNA4
(M596V +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4
(V418L +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4
(V594M +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GUncertain significance
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4
(Y593D +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4
(E589K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CHRNA4
(K412del +1 more)
Deletion
(inframe_deletion +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4
(V411L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CHRNA4
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GConflicting classifications of pathogenicity
CHRNA4
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GBenign
CHRNA4
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
CHRNA4
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHRNA4
Single nucleotide variant
(intron variant)
not provided
GBenign
CHRNA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHRNA4
Single nucleotide variant
(intron variant)
not provided
GBenign
CHRNA4
Single nucleotide variant
(intron variant)
not provided
GBenign
CHRNA4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHRNA4
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
CHRNA4
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
+3 more
GBenign
CHRNA4
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
CHRNA4
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GLikely benign
CHRNA4
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4
Single nucleotide variant
(splice donor variant)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4
(S586L +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GConflicting classifications of pathogenicity
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4
(T583fs +1 more)
Microsatellite
(frameshift variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4
(E405G +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GConflicting classifications of pathogenicity
CHRNA4
(E405K +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+2 more
GConflicting classifications of pathogenicity
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GBenign
CHRNA4
(A580T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GLikely benign
CHRNA4
(H401Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
CHRNA4-related condition
GLikely benign
CHRNA4
(D400E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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